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UVA Reports Surprising Findings Related to Heart Protein, NKX2-5,
December 18, 2007New research from the University of Virginia Health System shows that, in cases of Type 1 myotonic muscular dystrophy (DM1), a well known heart protein does several surprising things. DM1 is the most common form of muscular dystrophy in adults and affects approximately 40,000 adults and children in the U.S.
The protein, NKX2-5, is a biomarker for heart stem cells. It is also very important for the normal development of the heart. "Too little of it causes major cardiac problems including slow and irregular heartbeats," observes Dr. Mani Mahadevan, a human genetics researcher and Professor of Pathology at UVa who led the study.
The researchers were surprised to find that mice and individuals with DM1 actually overproduce NKX2-5, yet experience the same kind of heart problems associated with too little of it.
Excessive NKX2-5 may explain why as many as 60 to 70 percent of individuals with DM1 develop heart problems which cause their heartbeats to become slow and irregular, often necessitating the need for pacemakers. If these irregular heartbeats are not detected, sudden death can occur.
By using the mouse model of DM1 and mice genetically engineered to produce less NKX2-5, Dr. Mahadevan and his team showed that reducing the excessive levels of NKX2-5 seemed to protect the mice from the heart problems.
Researchers were also surprised to find NKX2-5 in the muscles of mice and individuals with DM1. "Usually, NKX2-5 is found only in the heart of adults," Dr. Mahadevan notes. "It's like the muscle is having some kind of 'identity crisis' and starting to make proteins that shouldn't be there normally."
This discovery could prove beneficial, says Dr. Mahadevan, and lead to development of a simple diagnostic test to follow a patient's response to potential therapies.
Myotonic muscular dystrophy is recognized as the first example of a disease caused by a toxic RNA. RNAs are intermediary molecules that convey the genetic code in the DNA to the rest of the cell. RNAs are normally "cut and pasted together" by a process called RNA splicing. It is currently thought that the toxic RNA causes DM1 by disrupting normal RNA splicing.
"Much of the research on DM1 is focused on factors that cause RNA splicing defects. Our work may provide explanations for pathogenic effects not accounted for by RNA mis-splicing," Mahadevan explained.
In this current study, Dr. Mahadevan and his colleagues built upon their groundbreaking research from 2006 which showed that toxic RNA causes DM1 and that getting rid of it actually reversed the disease process. Their latest findings demonstrate a new effect of RNA toxicity and how this may cause cardiac conduction abnormalities.
Entitled, "RNA Toxicity in Myotonic Muscular Dystrophy Induces NKX2-5 Expression," the study appears in the December 16, 2007 online edition of Nature Genetics.
University of Virginia Health System
Excessive NKX2-5 may explain why as many as 60 to 70 percent of individuals with DM1 develop heart problems which cause their heartbeats to become slow and irregular, often necessitating the need for pacemakers. If these irregular heartbeats are not detected, sudden death can occur.
By using the mouse model of DM1 and mice genetically engineered to produce less NKX2-5, Dr. Mahadevan and his team showed that reducing the excessive levels of NKX2-5 seemed to protect the mice from the heart problems.
Researchers were also surprised to find NKX2-5 in the muscles of mice and individuals with DM1. "Usually, NKX2-5 is found only in the heart of adults," Dr. Mahadevan notes. "It's like the muscle is having some kind of 'identity crisis' and starting to make proteins that shouldn't be there normally."
This discovery could prove beneficial, says Dr. Mahadevan, and lead to development of a simple diagnostic test to follow a patient's response to potential therapies.
Myotonic muscular dystrophy is recognized as the first example of a disease caused by a toxic RNA. RNAs are intermediary molecules that convey the genetic code in the DNA to the rest of the cell. RNAs are normally "cut and pasted together" by a process called RNA splicing. It is currently thought that the toxic RNA causes DM1 by disrupting normal RNA splicing.
"Much of the research on DM1 is focused on factors that cause RNA splicing defects. Our work may provide explanations for pathogenic effects not accounted for by RNA mis-splicing," Mahadevan explained.
In this current study, Dr. Mahadevan and his colleagues built upon their groundbreaking research from 2006 which showed that toxic RNA causes DM1 and that getting rid of it actually reversed the disease process. Their latest findings demonstrate a new effect of RNA toxicity and how this may cause cardiac conduction abnormalities.
Entitled, "RNA Toxicity in Myotonic Muscular Dystrophy Induces NKX2-5 Expression," the study appears in the December 16, 2007 online edition of Nature Genetics.
University of Virginia Health System
Muscular Dystrophy Current Events and Muscular Dystrophy News RSSTreatment to improve degenerating muscle gains strength
A study appearing in Science Translational Medicine puts scientists one step closer to clinical trials to test a gene delivery strategy to improve muscle mass and function in patients with certain degenerative muscle disorders.
Possible help in fight against muscle-wasting disease
A compound already used to treat pneumonia could become a new therapy for an inherited muscular wasting disease, according to researchers at the University of Oregon and the University of Rochester School of Medicine and Dentistry in New York.
Exon-skipping drug prevents muscle wasting, maintains muscle function in dystrophin deficient mice
An exon skipping PPMO has demonstrated dramatic effects in the prevention and treatment of severely affected, dystrophin and utrophin-deficient mice, preventing severe deterioration of the treated animals and extending their lifespan.
To regenerate muscle, cellular garbage men must become builders
For scientists at the European Molecular Biology Laboratory (EMBL) in Monterotondo, Italy, what seemed like a disappointing result turned out to be an important discovery.
Zoo volunteers help explain mysteries of the genome
As the University of Leicester approaches the 25th anniversary of the discovery of DNA fingerprinting (September 10), Leicester geneticists interested in a particular type of DNA are receiving some help from an unusual band of assistants.
Small molecule inhibits pathology associated with myotonic dystrophy type 1
Researchers at the University of Illinois have designed a small molecule that blocks an aberrant pathway associated with myotonic dystrophy type 1, the most common form of muscular dystrophy.
Researchers identify new function for protein missing in Duchenne muscular dystrophy
Researchers at the University of Minnesota and National Institutes of Health have identified a new function for the protein missing in people with the most common and ultimately lethal form of childhood muscular dystrophy.
Sticky protein helps reinforce fragile muscle membranes
A new study by scientists at the University of Iowa shows why muscle membranes don't rupture when healthy people exercise.
Stem cell surprise for tissue regeneration
Scientists working at the Carnegie Institution's Department of Embryology, with colleagues, have overturned previous research that identified critical genes for making muscle stem cells.
Researchers make progress toward early identification of muscular dystrophy
The saying "Knowing is half the battle" is never more true than when discussing early treatment of disease. Muscular dystrophy is one such disease where patients can benefit from early treatment. Now, new research is moving doctors and scientists closer to disease diagnosis in advance of patient symptoms.
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